Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Low maternal melatonin level increases autism spectrum disorder risk in children
, 2018 Wiebe Braam +4 more
openalex +2 more sources
The relevance of family engagement in the implementation of the Picture Exchange Communication System (PECS) in children with Autism Spectrum Disorder [PDF]
, 2021 Dayane Oliveira Felicio Olivatti +4 more
openalex +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Autism Spectrum Disorder and screen time during lockdown: an Italian study. [PDF]
, 2021 Maria Grazia Logrieco +10 more
openalex +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Iranian Journal of Psychiatry, 2018 Objective: This study aimed to identify autistic like traits in relatives of patients with schizophrenia and autism spectrum disorder. Method: causal-comparative research design was utilized.
Zeynab Khanjani +3 more
doaj
Fetal Alcohol Spectrum Disorders and Inadequacy of Care: Importance of Raising Awareness in Clinical Practice [PDF]
, 2023 Sigita Lesinskienė +6 more
openalex +1 more source
What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis.
Journal of the American Academy of Child and Adolescent Psychiatry, 2017 R. Loomes, Laura Hull, W. Mandy
semanticscholar +1 more source
Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang +16 more
wiley +1 more source